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Challenges to case-only analysis for interaction detection using polygenic risk scores: model assumptions and biases in large biobanks.

Genetics - 4 Mar 2026

Zhang Wenmin, Lu Qiongshi, Lu Tianyuan

Abstract excerpt

Understanding gene-environment and gene-gene interactions is important for studying complex diseases. Case-only analysis has been proposed to improve power for detecting interactions. However, case-only analysis relies on key assumptions, including correct specification of the disease risk model and marginal independence between variables. In this study, we systematically investigate the challenges of case-only...

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PMID: 41529202
DOI: 10.1093/genetics/iyag006

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